D2;B6-TardbpRgsc2268/RgscH

Status

Available to order

EMMA IDEM:12616
Citation informationRRID:IMSR_EM:12616 

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International strain nameD2;B6-TardbpRgsc2268/RgscH
Alternative nameTardbp RRM2mut (F210I) DBA
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolTardbpRgsc2268
Gene/Transgene symbolTardbp

Information from provider

ProviderYoichi Gondo
Provider affiliationDepartment of Molecular Life Sciences, Tokai University School of Medicine
Genetic informationENU induced point mutation, mouse Tardbp gene, "low complexity domain"; F210I (chr4:148,619,270 (mm10), T>A)
Phenotypic informationHomozygous:
Assumed lethal. Homozygotes are lethal on B6 and B6 x DBA (F1).

Heterozygous:
None known
Breeding history>10 generations on DBA/2 at MRC Harwell
References
  • ENU-based gene-driven mutagenesis in the mouse: a next-generation gene-targeting system.;Gondo Yoichi, Fukumura Ryutaro, Murata Takuya, Makino Shigeru, ;2010;Experimental animals;59;537-48; 21030782
  • Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.;Fratta Pietro, Sivakumar Prasanth, Humphrey Jack, Lo Kitty, Ricketts Thomas, Oliveira Hugo, Brito-Armas Jose M, Kalmar Bernadett, Ule Agnieszka, Yu Yichao, Birsa Nicol, Bodo Cristian, Collins Toby, Conicella Alexander E, Mejia Maza Alan, Marrero-Gagliardi Alessandro, Stewart Michelle, Mianne Joffrey, Corrochano Silvia, Emmett Warren, Codner Gemma, Groves Michael, Fukumura Ryutaro, Gondo Yoichi, Lythgoe Mark, Pauws Erwin, Peskett Emma, Stanier Philip, Teboul Lydia, Hallegger Martina, Calvo Andrea, Chiò Adriano, Isaacs Adrian M, Fawzi Nicolas L, Wang Eric, Housman David E, Baralle Francisco, Greensmith Linda, Buratti Emanuele, Plagnol Vincent, Fisher Elizabeth Mc, Acevedo-Arozena Abraham, ;2018;The EMBO journal;37;; 29764981
Homozygous fertileno
Homozygous viableno
Homozygous matings requiredno
Immunocompromisednot known

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

IMPC phenotypes (gene matching)
  • decreased blood urea nitrogen level / IMPC
  • decreased bone mineral content / IMPC
  • preweaning lethality, complete penetrance / IMPC
  • decreased mean platelet volume / IMPC
  • decreased bone mineral density / IMPC
  • abnormal startle reflex / IMPC
  • embryonic lethality prior to organogenesis / IMPC
MGI phenotypes (gene matching)
  • increased body weight / MGI
  • abnormal locomotor behavior / MGI
  • impaired coordination / MGI
  • abnormal eating behavior / MGI
  • polyphagia / MGI
  • abnormal object recognition memory / MGI
  • limb grasping / MGI
  • abnormal learning/memory/conditioning / MGI
  • abnormal motor capabilities/coordination/movement / MGI
  • increased vertical activity / MGI
  • no phenotypic analysis / MGI
  • impaired muscle relaxation / MGI
  • abnormal GABAergic neuron morphology / MGI
  • nervous system phenotype / MGI
  • decreased stereotypic behavior / MGI
  • abnormal brain interneuron morphology / MGI
  • abnormal muscle tone / MGI
  • behavior/neurological phenotype / MGI
  • slow postnatal weight gain / MGI
  • decreased grip strength / MGI
  • prenatal lethality, complete penetrance / MGI
  • embryonic lethality, complete penetrance / MGI
  • embryonic lethality between implantation and somite formation, complete penetrance / MGI
  • preweaning lethality, incomplete penetrance / MGI
  • absent inner cell mass proliferation / MGI
  • embryonic lethality prior to organogenesis / MGI
  • abnormal cognition / MGI
  • cognitive inflexibility / MGI

Literature references

  • ENU-based gene-driven mutagenesis in the mouse: a next-generation gene-targeting system.;Gondo Yoichi, Fukumura Ryutaro, Murata Takuya, Makino Shigeru, ;2010;Experimental animals;59;537-48; 21030782
  • Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.;Fratta Pietro, Sivakumar Prasanth, Humphrey Jack, Lo Kitty, Ricketts Thomas, Oliveira Hugo, Brito-Armas Jose M, Kalmar Bernadett, Ule Agnieszka, Yu Yichao, Birsa Nicol, Bodo Cristian, Collins Toby, Conicella Alexander E, Mejia Maza Alan, Marrero-Gagliardi Alessandro, Stewart Michelle, Mianne Joffrey, Corrochano Silvia, Emmett Warren, Codner Gemma, Groves Michael, Fukumura Ryutaro, Gondo Yoichi, Lythgoe Mark, Pauws Erwin, Peskett Emma, Stanier Philip, Teboul Lydia, Hallegger Martina, Calvo Andrea, Chiò Adriano, Isaacs Adrian M, Fawzi Nicolas L, Wang Eric, Housman David E, Baralle Francisco, Greensmith Linda, Buratti Emanuele, Plagnol Vincent, Fisher Elizabeth Mc, Acevedo-Arozena Abraham, ;2018;The EMBO journal;37;; 29764981

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